Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.
Dossena S, Rodighiero S, Vezzoli V, Nofziger C, Salvioni E, Boccazzi M, Grabmayer E, Bottà G, Meyer G, Fugazzola L, Beck-Peccoz P, Paulmichl M.
Dossena S, et al.
J Mol Endocrinol. 2009 Sep;43(3):93-103. doi: 10.1677/JME-08-0175. Epub 2009 Jul 16.
J Mol Endocrinol. 2009.
PMID: 19608655
Review.
Pendred syndrome (PS) is the most frequent form of genetically related syndromic hearing loss, and is associated with mutations of pendrin, encoded by the SLC26A4 gene. ...
Pendred syndrome (PS) is the most frequent form of genetically related syndromic hearing loss, and is associated with mutation …